Your Good Partner in Biology Research

  1. 首页
  2. 蛋白
  3. 重组蛋白
  4. Recombinant Human Lipase member H (LIPH)

Recombinant Human Lipase member H (LIPH)

  • 中文名称：
    人LIPH重组蛋白
  • 货号：
    CSB-YP848833HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人LIPH重组蛋白
  • 货号：
    CSB-EP848833HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人LIPH重组蛋白
  • 货号：
    CSB-EP848833HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人LIPH重组蛋白
  • 货号：
    CSB-BP848833HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人LIPH重组蛋白
  • 货号：
    CSB-MP848833HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    LIPH
  • Uniprot No.：
  • 别名：
    AH; ARWH2; LAH2; Lipase H; Lipase member H; LIPH; LIPH_HUMAN; LPD lipase related protein; LPD lipase-related protein; LPDLR; Membrane associated phosphatidic acid selective phospholipase A1 alpha; Membrane bound phosphatidic acid selective phospholipase A1; Membrane-associated phosphatidic acid-selective phospholipase A1-alpha; mPA PLA1; mPA-PLA1 alpha; MPAPLA1; OTTHUMP00000210343; OTTHUMP00000210344; Phospholipase A1 member B; PLA1B
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Full Length of Mature Protein
  • 表达区域：
    19-451
  • 氨基酸序列
    EE TCPSFTRLSF HSAVVGTGLN VRLMLYTRKN LTCAQTINSS AFGNLNVTKK TTFIVHGFRP TGSPPVWMDD LVKGLLSVED MNVVVVDWNR GATTLIYTHA SSKTRKVAMV LKEFIDQMLA EGASLDDIYM IGVSLGAHIS GFVGEMYDGW LGRITGLDPA GPLFNGKPHQ DRLDPSDAQF VDVIHSDTDA LGYKEPLGNI DFYPNGGLDQ PGCPKTILGG FQYFKCDHQR SVYLYLSSLR ESCTITAYPC DSYQDYRNGK CVSCGTSQKE SCPLLGYYAD NWKDHLRGKD PPMTKAFFDT AEESPFCMYH YFVDIITWNK NVRRGDITIK LRDKAGNTTE SKINHEPTTF QKYHQVSLLA RFNQDLDKVA AISLMFSTGS LIGPRYKLRI LRMKLRSLAH PERPQLCRYD LVLMENVETV FQPILCPELQ L
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    Hydrolyzes specifically phosphatidic acid (PA) to produce 2-acyl lysophosphatidic acid (LPA; a potent bioactive lipid mediator) and fatty acid. Does not hydrolyze other phospholipids, like phosphatidylserine (PS), phosphatidylcholine (PC) and phosphatidylethanolamine (PE) or triacylglycerol (TG).
  • 基因功能参考文献：
    1. Two mutants of LIPH lead to secretion defects of LIPH, which are involved in the pathogenesis of Autosomal recessive woolly hair/hypotrichosis. PMID: 29346610
    2. Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in three consanguineous Pakistani families. PMID: 28425126
    3. The present study shows 93% of Japanese patients with ARWH had at least one of the two founder mutations in exon 6 of LIPH. Highly prevalent founder mutations in LIPH. PMID: 27641630
    4. The s report no apparent decrease in total hair count but remarkable miniaturization and increased telogen/anagen hair ratio in patients homozygous mutations in LIPH. PMID: 27375176
    5. This meta-analysis demonstrates that the T allele in the LIPC rs493258 polymorphism was significantly associated with the risk of any and late age related macular degeneration PMID: 27763569
    6. Our data suggest that LIPH may have prognostic value for esophageal cancer. PMID: 26341494
    7. sequencing LIPH identi fi ed a novel non-sense mutation (c.328C>T; p.Arg110*) in one and a previously reported 2-bp deletion mutation (c.659_660delTA, p.Ile220ArgfsX29) in three other families. PMID: 24628704
    8. A heterozygous missense mutation c.736T>A (p.Cys246Ser) in exon 6 of the LIPH gene of both the affected individuals was identified. In addition, we also found that both patients carried heterozygous sequences in exon 5 of the LIPH gene. PMID: 25899282
    9. The study further extends the body of evidence that sequence variants in the LIPH gene result in hypotrichosis and woolly hair phenotype. PMID: 26645693
    10. c.460_461AG>GA (p.Ser154Asp) in exon 3 and c.742C>A (p.His248Asn) in exon 6 associated with autosomal recessive woolly hair PMID: 25201209
    11. High LIPH expression is associated with metastasis in breast cancer. PMID: 25123262
    12. Mutation patterns of LIPH might be associated with hypotrichosis severity in autosomal recessive woolly hair/hypotrichosis. PMID: 24586639
    13. Immunohistochemistry detected LIPH expression in most of the adenocarcinomas and bronchioloalveolar carcinomas obtained from lung cancer patients. LIPH expression was also observed less frequently in the squamous lung cancer tissue samples. PMID: 24380866
    14. Among South Indian subjects without diabetes, the rs1800588 C/T (C-480T) and rs6074 C/A (Thr479Thr) variants of the HL gene are associated with hypertriglyceridemia and low HDL-C, respectively. The TGC haplotype was significantly associated with low HDL-C PMID: 23550552
    15. A case of Japanese siblings with autosomal recessive woolly hair associated with LIPH gene homozygous mutation of c.736T > A is presented. PMID: 23590372
    16. analysis of the LIPH gene revealed homozygosity for a novel truncating mutation, as well as three previously identified mutations in affected individuals with autosomal recessive hypotrichosis and woolly hair. PMID: 23066499
    17. The beta9 loop domain of PA-PLA1alpha has a crucial role in autosomal recessive woolly hair/hypotrichosis [case report] PMID: 22475755
    18. the c.659_660delTA mutation in the LIPH gene caused autosomal recessive wooly hair/hypotrichosis phenotype in the studied family. PMID: 22125978
    19. 736T>A transition is highly specific and common in autosomal recessive woolly hair/hypotrichosis of Japanese origin. PMID: 21352330
    20. A phosphatidic acid-phospholipase A1alpha-lysophosphatidic acid-P2Y5 axis regulates differentiation of hair follicles via a tumour necrosis factor alpha converting enzyme-transforming growth factor alpha-epidermal growth factor receptor pathway. PMID: 21857648
    21. Mutations identified in the present study extend the body of evidence implicating LPAR6 and LIPH genes in pathogenesis of human hereditary hair loss. PMID: 21426374
    22. The results suggest defective activation of P2Y5 due to reduced 2-acyl lysophosphatidic acid production by the mutant PA-PLA1a that are encoded by LIPH is involved in the pathogenesis of ARH. PMID: 20213768
    23. Studied five consanguineous Pakistani families with autosomal recessive hypotrichosis and identified a novel splice site and two previously reported mutations in the LIPH gene. PMID: 20107739
    24. these findings not only expand the spectrum of LIPH mutations, but also provide a better understanding of the crucial role of the LIPH/LPA/P2Y5 signaling in hair growth in humans. PMID: 19892526
    25. PA-selective PLA(1) has a role in LPA production. PMID: 12063250
    26. mRNA expressed in intestine, lung, and pancreas. Lipase H protein was also detected in human intestine. PMID: 12213196
    27. individuals with an inherited form of hair loss and a hair growth defect were homozygous for a deletion in the LIPH gene on chromosome 3q27; results suggest that lipase H participates in hair growth and development PMID: 17095700
    28. identification of a novel deletion mutation in exon 2 of LIPH gene in a Pakistani family with autosomal recessive hypotrichosis PMID: 17333281
    29. a novel deletion mutation in exon 5 (c.659-660delTA) causing frameshift and downstream premature termination codon causes autosomal recessive hypotrichosis (LAH2) PMID: 18445047
    30. The deletion mutation (c.682delT) reported lies between beta9 and lid loops and changes the reading frame after 31 amino acids, thereby eliminating the lid peptide sequence required for substrate recognition in combination with beta9 loop. PMID: 18795930
    31. gene duplication mutation in exon 2 was found to segregate with hypotrichosis in consanguineous and distantly related Izraeli families PMID: 18820939
    32. LIPH is a second causative gene for ARWH/hypotrichosis, giving rise to a phenotype clinically indistinguishable from P2RY5 mutations PMID: 18830268
    33. The mutations reported here are the first missense mutations identified in the LIPH gene, which extend the body of evidences implicating the LIPH gene in the pathogenesis of human hereditary hair loss. PMID: 19167195
    34. crucial role of LIPH gene in hair growth. PMID: 19262606
    35. Our study increases the spectrum of known LIPH mutations and provides biochemical evidence for the important role of lipase H and its product LPA in human hair growth PMID: 19536142
    36. Mutations in LIPH result in variable degrees of hypotrichosis simplex, woolly hair is an essential component of the clinical spectrum;hot spot in the LIPH gene may be c.280_369dup in exon 2 PMID: 19766349

    显示更多

    收起更多

  • 相关疾病：
    Hypotrichosis 7 (HYPT7); Woolly hair autosomal recessive 2 (ARWH2)
  • 亚细胞定位：
    Secreted. Cell membrane; Peripheral membrane protein.
  • 蛋白家族：
    AB hydrolase superfamily, Lipase family
  • 组织特异性：
    Present in intestine (at protein level). Expressed in colon, prostate, kidney, pancreas, ovary, testis, intestine, lung and pancreas. Expressed at lower level in brain, spleen and heart. In hair, it is prominently expressed in hair follicles, including th
  • 数据库链接：

    HGNC: 18483

    OMIM: 604379

    KEGG: hsa:200879

    STRING: 9606.ENSP00000296252

    UniGene: Hs.68864